Canonical Allele Identifier: CA9063094

Gene: AMH

Linked Data

• dbSNP Id: rs771217153
• ExAC: 19:2251785 C / A
• gnomAD v2: 19-2251785-C-A
• gnomAD v3: 19-2251786-C-A
• gnomAD v4: 19-2251786-C-A
• MyVariant Identifiers: chr19:g.2251785C>A (hg19) ; chr19:g.2251786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.2251786C>A , CM000681.2:g.2251786C>A	GRCh38
NC_000019.9:g.2251785C>A , CM000681.1:g.2251785C>A	GRCh37
NC_000019.8:g.2202785C>A	NCBI36
NG_012190.1:g.7673C>A
NG_032853.1:g.9638G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221496.5:c.1512C>A MANE Select	ENSP00000221496.2:p.Gly504=
ENST00000221496.4:c.1512C>A	ENSP00000221496.2:p.Gly504=
NM_000479.3:c.1512C>A	NP_000470.2:p.Gly504=
NM_000479.4:c.1512C>A	NP_000470.2:p.Gly504=
NM_000479.5:c.1512C>A MANE Select	NP_000470.3:p.Gly504=